Possible Cure Found For Rare "Stone Man" Disease That Turns Muscle To Bone

Around the world, there are 800 confirmed cases (although the estimated total is higher) of a rare and debilitating disease called fibrodysplasia ossificans progressiva (FOP). Better known as “stone man syndrome,” it causes muscle to turn into bone, locking limbs in place, and is often fatal. It is currently untreatable, but scientists think they may now be a step closer to a cure.

The research, which included Regeneron Pharmaceuticals in New York, was published in the journal Science Translational Medicine and describes how the lethal disorder is caused by mutations in a gene called ACVR1, which produces a cell surface protein called a transmembrane receptor. The mutation affects the way the receptor responds to a protein called activin A, causing it to go into overdrive when normally it would be repressed. This can ultimately lead to the replacement of muscle and soft tissue with bone, causing – for example – joints in elbows or ankles to freeze.

"Imagine you are driving your car down the road and you come to a red light. You press on the brakes, and the car stops," Aris Economides, senior author on the study and executive director at Regeneron, told HealthDay. With the disorder, "not only does your car not stop, actually the brakes are hot-wired to the accelerator."

The researchers studying the disease, though, found that the protein activin A can be prevented from triggering the gene using an antibody, developed by scientists at Regeneron. Tests on mice with FOP showed that the treatment successfully stopped the growth of new bone.

Read More: http://www.iflscience.com/health-and-medicine/possible-cure-found-rare-stone-man-disease-turns-muscle-bone
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